Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report
The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with e...
Ausführliche Beschreibung
Autor*in: |
Marcella Nunziato [verfasserIn] Flavio Starnone [verfasserIn] Barbara Lombardo [verfasserIn] Matilde Pensabene [verfasserIn] Caterina Condello [verfasserIn] Francesco Verdesca [verfasserIn] Chiara Carlomagno [verfasserIn] Sabino De Placido [verfasserIn] Lucio Pastore [verfasserIn] Francesco Salvatore [verfasserIn] Valeria D’Argenio [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2017 |
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Übergeordnetes Werk: |
In: International Journal of Molecular Sciences - MDPI AG, 2003, 18(2017), 11, p 2487 |
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Übergeordnetes Werk: |
volume:18 ; year:2017 ; number:11, p 2487 |
Links: |
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DOI / URN: |
10.3390/ijms18112487 |
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Katalog-ID: |
DOAJ048902926 |
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10.3390/ijms18112487 doi (DE-627)DOAJ048902926 (DE-599)DOAJd6e3431536d14db093e6844177a038fe DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Marcella Nunziato verfasserin aut Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. hereditary breast cancer BRCA2 large genomic rearrangements next generation sequencing aCGH Biology (General) Chemistry Flavio Starnone verfasserin aut Barbara Lombardo verfasserin aut Matilde Pensabene verfasserin aut Caterina Condello verfasserin aut Francesco Verdesca verfasserin aut Chiara Carlomagno verfasserin aut Sabino De Placido verfasserin aut Lucio Pastore verfasserin aut Francesco Salvatore verfasserin aut Valeria D’Argenio verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 18(2017), 11, p 2487 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:18 year:2017 number:11, p 2487 https://doi.org/10.3390/ijms18112487 kostenfrei https://doaj.org/article/d6e3431536d14db093e6844177a038fe kostenfrei https://www.mdpi.com/1422-0067/18/11/2487 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2017 11, p 2487 |
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10.3390/ijms18112487 doi (DE-627)DOAJ048902926 (DE-599)DOAJd6e3431536d14db093e6844177a038fe DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Marcella Nunziato verfasserin aut Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. hereditary breast cancer BRCA2 large genomic rearrangements next generation sequencing aCGH Biology (General) Chemistry Flavio Starnone verfasserin aut Barbara Lombardo verfasserin aut Matilde Pensabene verfasserin aut Caterina Condello verfasserin aut Francesco Verdesca verfasserin aut Chiara Carlomagno verfasserin aut Sabino De Placido verfasserin aut Lucio Pastore verfasserin aut Francesco Salvatore verfasserin aut Valeria D’Argenio verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 18(2017), 11, p 2487 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:18 year:2017 number:11, p 2487 https://doi.org/10.3390/ijms18112487 kostenfrei https://doaj.org/article/d6e3431536d14db093e6844177a038fe kostenfrei https://www.mdpi.com/1422-0067/18/11/2487 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2017 11, p 2487 |
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10.3390/ijms18112487 doi (DE-627)DOAJ048902926 (DE-599)DOAJd6e3431536d14db093e6844177a038fe DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Marcella Nunziato verfasserin aut Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. hereditary breast cancer BRCA2 large genomic rearrangements next generation sequencing aCGH Biology (General) Chemistry Flavio Starnone verfasserin aut Barbara Lombardo verfasserin aut Matilde Pensabene verfasserin aut Caterina Condello verfasserin aut Francesco Verdesca verfasserin aut Chiara Carlomagno verfasserin aut Sabino De Placido verfasserin aut Lucio Pastore verfasserin aut Francesco Salvatore verfasserin aut Valeria D’Argenio verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 18(2017), 11, p 2487 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:18 year:2017 number:11, p 2487 https://doi.org/10.3390/ijms18112487 kostenfrei https://doaj.org/article/d6e3431536d14db093e6844177a038fe kostenfrei https://www.mdpi.com/1422-0067/18/11/2487 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2017 11, p 2487 |
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10.3390/ijms18112487 doi (DE-627)DOAJ048902926 (DE-599)DOAJd6e3431536d14db093e6844177a038fe DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Marcella Nunziato verfasserin aut Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. hereditary breast cancer BRCA2 large genomic rearrangements next generation sequencing aCGH Biology (General) Chemistry Flavio Starnone verfasserin aut Barbara Lombardo verfasserin aut Matilde Pensabene verfasserin aut Caterina Condello verfasserin aut Francesco Verdesca verfasserin aut Chiara Carlomagno verfasserin aut Sabino De Placido verfasserin aut Lucio Pastore verfasserin aut Francesco Salvatore verfasserin aut Valeria D’Argenio verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 18(2017), 11, p 2487 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:18 year:2017 number:11, p 2487 https://doi.org/10.3390/ijms18112487 kostenfrei https://doaj.org/article/d6e3431536d14db093e6844177a038fe kostenfrei https://www.mdpi.com/1422-0067/18/11/2487 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2017 11, p 2487 |
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10.3390/ijms18112487 doi (DE-627)DOAJ048902926 (DE-599)DOAJd6e3431536d14db093e6844177a038fe DE-627 ger DE-627 rakwb eng QH301-705.5 QD1-999 Marcella Nunziato verfasserin aut Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. hereditary breast cancer BRCA2 large genomic rearrangements next generation sequencing aCGH Biology (General) Chemistry Flavio Starnone verfasserin aut Barbara Lombardo verfasserin aut Matilde Pensabene verfasserin aut Caterina Condello verfasserin aut Francesco Verdesca verfasserin aut Chiara Carlomagno verfasserin aut Sabino De Placido verfasserin aut Lucio Pastore verfasserin aut Francesco Salvatore verfasserin aut Valeria D’Argenio verfasserin aut In International Journal of Molecular Sciences MDPI AG, 2003 18(2017), 11, p 2487 (DE-627)316340715 (DE-600)2019364-6 14220067 nnns volume:18 year:2017 number:11, p 2487 https://doi.org/10.3390/ijms18112487 kostenfrei https://doaj.org/article/d6e3431536d14db093e6844177a038fe kostenfrei https://www.mdpi.com/1422-0067/18/11/2487 kostenfrei https://doaj.org/toc/1422-0067 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 18 2017 11, p 2487 |
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Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report |
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The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. |
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The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. |
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The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with early onset breast cancer and a family history of diverse cancers. BRCA molecular analysis was performed by NGS, and sequence data were analyzed using two software packages. Comparative genomic hybridization (CGH) array was used as confirmatory method. A novel large duplication, involving exons 4–26, of BRCA2 was directly detected in the patient by NGS workflow including quantitative analysis of copy number variants. The duplication observed was also found by CGH array, thus confirming its extent. Large genomic rearrangements can affect the BRCA1/2 genes, and thus contribute to germline predisposition to familial breast and ovarian cancers. The frequency of these mutations could be underestimated because of technical limitations of several routinely used molecular analysis, while their evaluation should be included also in these molecular testing. The NGS-based strategy described herein is an effective procedure to screen for all kinds of BRCA mutations. |
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